[ARVD-FORUM] Naxos' disease in dogs?. Dr. Protonotarios and Dr. Tsatsopoulou

[ARVD Symposium]

English - Spanish

Dear Dr. Lightowler, dear Colleagues

The association of any type of hair abnormalities with arrhythmogenic
right ventricular dysplasia/cardiomyopathy (ARVD/C) in humans or animals
is of great interest. In Naxos disease and its variants is due to a
defect in cell adhesion proteins. The reported woolly haircoat syndrome
(CWH) reported by Dr Roger Cook in Poll Hereford calves from Australia
shares a lot of similarities with Naxos disease;
Ref: 1. Protonotarios N, Tsatsopoulou A: Naxos disease and Carvajal
syndrome: cardicutaneous disorders that highlight the pathogenesis and
broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
Carddiovasc Path 2004;13:185-94.
Ref: 2. Whittington RJ, Cook RW. Cardiomyopathy and woolly haircoat
syndrome of Poll Hereford cattle: electrocardiographic findings and
unaffected calves. Aust Vet J 1988;65:341-4.

Basso et al reported 23 cases of boxer dogs with typical ARVD/C and
familial occurrence in 10 of them. Hair abnormalities are not reported
but the study probably did not focus on this aspect.
Ref: 3. Basso C, et al. Arrhythmogenic right ventricular cardiomyopathy
causing sudden cardiac death in boxer dogs: a new animal model of human
disease. Circulation 2004;109:1180-5.

>From our experience in Naxos disease, woolly hair apart from its
permanent association with ARVD/C in homozygotes, might serve also as a
clinical marker for the identification of heterozygous gene carriers.
Ref: 4. Protonotarios N, et al. Genotype-phenotype assessment in
autosomal recessive arrhythmogenic right ventricular cardiomyopathy
(Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol
2001;38:1477-84.

It would be of interest if the incidence of any type of hair
abnormalities among patients with non-syndromic ARVD/C (dominant or
sporadic) would be known.

The association of hair defects with ARVD/C in this particular breed of
canine patients might suggest a cell adhesion defect, also and it might
serve as a natural model for the studies of Naxos disease. Molecular
genetics together with histopathological and immunohistochemical
investigations in heart and skin tissues of these canine patients would
be of utmost importance.

Best regards to all

Nikos Protonotarios, MD and Adalena Tsatsopoulou, MD

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Estimado Dr. Lightowler, estimados colegas:

La asociacion de cualquier tipo de anormalidades de cabello con
miocardiopatia/displasia arritmogenica del ventriculo derecho (M/DAVD) en
humanos o en animales es de gran interes. La enfermedad de Naxos y sus
variantes se deben a un defecto en las proteinas de adhesion celular. El
sindrome de pelaje lanoso (woolly haircoat syndrome - CWH), sobre el que
informo el Dr. Roger Cook en terneros Hereford Poll de Australia comparte
muchas similitudes con la enfermedad de Naxos;
Ref: 1. Protonotarios N, Tsatsopoulou A: Naxos disease and Carvajal
syndrome: cardicutaneous disorders that highlight the pathogenesis and
broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
Carddiovasc Path 2004;13:185-94.
Ref: 2. Whittington RJ, Cook RW. Cardiomyopathy and woolly haircoat
syndrome of Poll Hereford cattle: electrocardiographic findings and
unaffected calves. Aust Vet J 1988;65:341-4.
Basso y cols., informaron sobre 23 casos de perros boxer con M/DAVD tipico y
ocurrencia familiar en 10 de ellos. No se informa sobre anormalidades del
cabello pero el estudio probablemente no se enfoco en este aspecto.
Ref: 3. Basso C, et al. Arrhythmogenic right ventricular cardiomyopathy
causing sudden cardiac death in boxer dogs: a new animal model of human
disease. Circulation 2004;109:1180-5.

De nuestra experiencia con la enfermedad de Naxos, el cabello lanoso aparte
de su asociacion permanente con la M/DAVD en homocigotos, podria servir
tambien como marcador clinico para la identificacion de portadores de genes
heterocigotos.
Ref: 4. Protonotarios N, et al. Genotype-phenotype assessment in autosomal
recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease)
caused by a deletion in plakoglobin. J Am Coll Cardiol 2001;38:1477-84.

Seria interesante si se conociera la incidencia de cualquier tipo de
anormalidades del cabello entre pacientes con M/DAVD no sindromico
(dominante o esporadica).

La asociacion de defectos del cabello con la M/DAVD en esta raza en
particular de pacientes caninos puede sugerir un defecto de adhesion celular
tambien, y puede servir como modelo natural para los estudios de la
enfermedad de Naxos. La genetica molecular junto con las investigaciones
histopatologicas e inmunohistoquimicas en los tejidos cardiacos y cutaneos
de estos pacientes caninos serian de gran importancia.

Saludos cordiales para todos,

Nikos Protonotarios, MD and Adalena Tsatsopoulou, MD

-- 
Dr. Sergio Dubner
Director

Dr. Edgardo Schapachnik
Director